Pathogenic effects of novel mutations in the P‐type ATPase ATP13A2 ( PARK9 ) causing Kufor‐Rakeb syndrome, a form of early‐onset parkinsonism

2011 ◽  
Vol 32 (8) ◽  
pp. 956-964 ◽  
Author(s):  
Jin‐Sung Park ◽  
Prachi Mehta ◽  
Antony A. Cooper ◽  
David Veivers ◽  
André Heimbach ◽  
...  
Keyword(s):  
Early Onset ◽  
Novel Mutations ◽  
P Type ◽  
Pathogenic Effects

scholarly journals Common Pathogenic Effects of Missense Mutations in the P-Type ATPase ATP13A2 (PARK9) Associated with Early-Onset Parkinsonism

PLoS ONE ◽  
2012 ◽  
Vol 7 (6) ◽  
pp. e39942 ◽  
Author(s):  
Agata Podhajska ◽  
Alessandra Musso ◽  
Alzbeta Trancikova ◽  
Klodjan Stafa ◽  
Roger Moser ◽  
...  
Keyword(s):  
Early Onset ◽  
Missense Mutations ◽  
P Type ◽  
Pathogenic Effects

Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism

2011 ◽  
Vol 26 (3) ◽  
pp. 553-556 ◽  
Author(s):  
Arianna Guidubaldi ◽  
Carla Piano ◽  
Filippo M. Santorelli ◽  
Gabriella Silvestri ◽  
Martina Petracca ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Early Onset ◽  
Spastic Paraplegia ◽  
Novel Mutations

scholarly journals Identification of four novel mutations in the HNF-1A gene in Chinese early-onset and/or multiplex diabetes pedigrees

2006 ◽  
Vol 119 (13) ◽  
pp. 1072-1078 ◽  
Author(s):  
Zhen YANG ◽  
Song-hua WU ◽  
Tai-shan ZHENG ◽  
Hui-juan LU ◽  
Kun-san XIANG
Keyword(s):  
Early Onset ◽  
Novel Mutations

Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A

2009 ◽  
Vol 19 (7) ◽  
pp. 476-480 ◽  
Author(s):  
Isabella Moroni ◽  
Michela Morbin ◽  
Micaela Milani ◽  
Claudia Ciano ◽  
Marianna Bugiani ◽  
...  
Keyword(s):  
Early Onset ◽  
Novel Mutations ◽  
Charcot Marie Tooth ◽  
Tooth Type

scholarly journals Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly type 2

Oncotarget ◽  
2016 ◽  
Vol 7 (48) ◽  
pp. 78363-78371 ◽  
Author(s):  
Santasree Banerjee ◽  
Huishuang Chen ◽  
Hui Huang ◽  
Jing Wu ◽  
Zhiyun Yang ◽  
...  
Keyword(s):  
Early Onset ◽  
Autosomal Recessive ◽  
Novel Mutations

scholarly journals Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

2020 ◽  
Vol 70 (12) ◽  
pp. 1962-1965
Author(s):  
Arumugam Paramasivam ◽  
Angamuthu K. Meena ◽  
Challa Venkatapathi ◽  
Robert D.S. Pitceathly ◽  
Kumarasamy Thangaraj
Keyword(s):  
Gene Expression ◽  
Functional Analysis ◽  
Mitochondrial Disease ◽  
Early Onset ◽  
Mitochondrial Encephalomyopathy ◽  
The Novel ◽  
Loss Of Function ◽  
Chemical Modifications ◽  
Phenotypic Spectrum ◽  
Pathogenic Effects

Abstract Epitranscriptomic systems enable post-transcriptional modifications of cellular RNA that are essential for regulating gene expression. Of the ~ 170 known RNA chemical modifications, methylation is among the most common. Loss of function mutations in NSUN3, encoding the 5-methylcytosine (m5C) methyltransferase NSun3, have been linked to multisystem mitochondrial disease associated with combined oxidative phosphorylation deficiency. Here, we report a patient with early-onset mitochondrial encephalomyopathy and seizures in whom the novel biallelic NSUN3 missense variants c.421G>C (p.A141P) and c.454T>A (p.C152S) were detected. Segregation studies and in silico functional analysis confirmed the likely pathogenic effects of both variants. These findings expand the molecular and phenotypic spectrum of NSUN3-related mitochondrial disease.

Deletion of exons 11-17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease

2000 ◽  
Vol 247 (11) ◽  
pp. 875-877 ◽  
Author(s):  
S. Selleri ◽  
E. Torchiana ◽  
D. Pareyson ◽  
L. Lulli ◽  
B Bertagnolio ◽  
...  
Keyword(s):  
Early Onset ◽  
Krabbe Disease ◽  
Novel Mutations

scholarly journals Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes

2014 ◽  
Vol 15 (1) ◽  
pp. 49-54 ◽  
Author(s):  
R Artuso ◽  
A Provenzano ◽  
B Mazzinghi ◽  
L Giunti ◽  
V Palazzo ◽  
...  
Keyword(s):  
Early Onset ◽  
Novel Mutations ◽  
Therapeutic Implications ◽  
Onset Diabetes
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